Inborn Errors of Metabolism in Humans

Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980

AvF. Cockburn

Häftad, Engelska, 2011

572 kr

Beställningsvara. Skickas inom 10-15 vardagar. Fri frakt över 249 kr.

Produktinformation

Utgivningsdatum:2011-10-14
Mått:152 x 229 x 19 mm
Vikt:464 g
Format:Häftad
Språk:Engelska
Antal sidor:296
Förlag:Springer
ISBN:9789400973275

Utforska kategorier

Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Innehållsförteckning

Section One Pathogenic Mechanisms of Inborn Errors: Clinical Implications of Biochemical Diversity.- 1 Molecular aspects of genetic heterogeneity.- 2 Inborn errors of purine metabolism-The Milner Lecture.- 3 Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia.- 4 Homocystinuria: clinical and biochemical heterogeneity.- 5 Hereditary defects of steroid biosynthesis.- 6 Blood-brain barrier amino-acid transport: clinical implications.- Section Two Treatment: New Aspects and Limits, Transplantation, Replacement Therapy, Genetic Engineering.- 7 Recent studies on the maturation of lysosomal enzymes.- 8 Enzyme substitution by fibroblast transplantation.- 9 Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders.- 10 Prospects for enzyme replacement therapy in heritable metabolic disorders.- Section Three Inborn Errors of Metabolism affecting Brain Development (Animal Models).- 11 Inborn errors of metabolism affecting brain development-Introduction.- 12 Mutations in mice affecting brain development and their correlations with human diseases.- 13 Murine mutations affecting myelination: models to study myelin diseases in the human.- 14 The effect of phenylalanine on myelin metabolism in adolescent rats.- 15 Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination.- Section Four Consequences of Inborn Errors of Metabolism for the Individual, the Family and Society.- 16 Inborn errors of metabolism consequences of long-term treatment for the individual, as derived from observations in phenylketonuria.- 17 Social aspects of the handicapped person.- 18 Psychological and educational aspects of handicap.- 19 Repercussions of screening.- 20 Some principles in the management of inherited metabolic disease.

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Inborn Errors of Metabolism in Humans

Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980

AvF. Cockburn

Häftad, Engelska, 2011

572 kr

Beställningsvara. Skickas inom 10-15 vardagar. Fri frakt över 249 kr.

Produktinformation

Utgivningsdatum:2011-10-14
Mått:152 x 229 x 19 mm
Vikt:464 g
Format:Häftad
Språk:Engelska
Antal sidor:296
Förlag:Springer
ISBN:9789400973275

Utforska kategorier

Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Innehållsförteckning

Section One Pathogenic Mechanisms of Inborn Errors: Clinical Implications of Biochemical Diversity.- 1 Molecular aspects of genetic heterogeneity.- 2 Inborn errors of purine metabolism-The Milner Lecture.- 3 Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia.- 4 Homocystinuria: clinical and biochemical heterogeneity.- 5 Hereditary defects of steroid biosynthesis.- 6 Blood-brain barrier amino-acid transport: clinical implications.- Section Two Treatment: New Aspects and Limits, Transplantation, Replacement Therapy, Genetic Engineering.- 7 Recent studies on the maturation of lysosomal enzymes.- 8 Enzyme substitution by fibroblast transplantation.- 9 Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders.- 10 Prospects for enzyme replacement therapy in heritable metabolic disorders.- Section Three Inborn Errors of Metabolism affecting Brain Development (Animal Models).- 11 Inborn errors of metabolism affecting brain development-Introduction.- 12 Mutations in mice affecting brain development and their correlations with human diseases.- 13 Murine mutations affecting myelination: models to study myelin diseases in the human.- 14 The effect of phenylalanine on myelin metabolism in adolescent rats.- 15 Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination.- Section Four Consequences of Inborn Errors of Metabolism for the Individual, the Family and Society.- 16 Inborn errors of metabolism consequences of long-term treatment for the individual, as derived from observations in phenylketonuria.- 17 Social aspects of the handicapped person.- 18 Psychological and educational aspects of handicap.- 19 Repercussions of screening.- 20 Some principles in the management of inherited metabolic disease.